De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome: Genetics in Medicine

G. Cappuccio, C. Sayou, P.L. Tanno, E. Tisserant, A.-L. Bruel, S.E. Kennani, J. Sá, K.J. Low, C. Dias, M. Havlovicová, M. Hančárová, E.E. Eichler, F. Devillard, S. Moutton, J. Van-Gils, C. Dubourg, S. Odent, B. Gerard, A. Piton, T. YamamotoN. Okamoto, H. Firth, K. Metcalfe, A. Moh, K.A. Chapman, E. Aref-Eshghi, J. Kerkhof, A. Torella, V. Nigro, L. Perrin, J. Piard, G. Le Guyader, T. Jouan, C. Thauvin-Robinet, Y. Duffourd, J.K. George-Abraham, C.A. Buchanan, D. Williams, U. Kini, K. Wilson, N. Brunetti-Pierri, G. Casari, M. Pinelli, F. Musacchia, M. Mutarelli, D. Carrella, G. Vitiello, V. Capra, G. Parenti, V. Leuzzi, A. Selicorni, S. Maitz, S. Banfi, M. Zollino, M. Montomoli, D. Milani, C. Romano, A. Tummolo, D. De Brasi, A. Coppola, C. Santoro, A. Peron, C. Pantaleoni, R. Castello, S. D’Arrigo, S.B. Sousa, R.C.M. Hennekam, B. Sadikovic, J. Thevenon, J. Govin, A. Vitobello, Telethon Undiagnosed Diseases Program

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